PMID- 32103933
OWN - NLM
STAT- MEDLINE
DCOM- 20210209
LR  - 20210209
IS  - 1178-2005 (Electronic)
IS  - 1176-9106 (Print)
IS  - 1176-9106 (Linking)
VI  - 15
DP  - 2020
TI  - New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin 
      Deficiency.
PG  - 345-355
LID - 10.2147/COPD.S234646 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed genetic 
      predisposition for COPD and emphysema and other conditions, including liver 
      disease. Although there have been improvements in terms of awareness of AATD and 
      understanding of its treatment in recent years, current challenges center on 
      optimizing detection and management of patients with AATD, and improving access 
      to intravenous (IV) AAT therapy - the only available pharmacological intervention 
      that can slow disease progression. However, as an orphan disease with 
      geographically dispersed patients, international cooperation is essential to 
      address these issues. To achieve this, new European initiatives in the form of 
      the European Reference Network for Rare Lung Diseases (ERN-LUNG) and the European 
      Alpha-1 Research Collaboration (EARCO) have been established. These organizations 
      are striving to address the current challenges in AATD, and provide a new 
      platform for future research efforts in AATD. The first objectives of ERN-LUNG 
      are to establish a quality control program for European AATD laboratories and 
      create a disease management program for AATD, following the success of such 
      programs in the United States. The main purpose of EARCO is to create a 
      pan-European registry, with the aim of understanding the natural history of the 
      disease and supporting the development of new treatment modalities in AATD and 
      access to AAT therapy. Going further, other patient-centric initiatives involve 
      improving the convenience of intravenous AAT therapy infusions through 
      extended-interval dosing and self-administration. The present review will discuss 
      the implementation of these initiatives and their potential contribution to the 
      optimization of patient care in AATD.
CI  - (c) 2020 Chorostowska-Wynimko et al.
FAU - Chorostowska-Wynimko, Joanna
AU  - Chorostowska-Wynimko J
AUID- ORCID: 0000-0003-1743-2961
AD  - Department of Genetics and Clinical Immunology, National Institute of 
      Tuberculosis and Lung Diseases, Warsaw, Poland.
FAU - Barrecheguren, Miriam
AU  - Barrecheguren M
AD  - Department of Pneumology, University Hospital Vall d'Hebron, Barcelona, Spain.
FAU - Ferrarotti, Ilaria
AU  - Ferrarotti I
AUID- ORCID: 0000-0003-4892-4192
AD  - Department of Internal Medicine and Therapeutics, Pneumology Unit IRCCS San 
      Matteo Hospital Foundation, University of Pavia, Pavia, Italy.
FAU - Greulich, Timm
AU  - Greulich T
AUID- ORCID: 0000-0002-2368-3014
AD  - Department of Medicine, Pulmonary and Critical Care Medicine, University Medical 
      Centre Giessen and Marburg, Philipps-University, Member of the German Centre for 
      Lung Research (DZL), Marburg, Germany.
FAU - Sandhaus, Robert A
AU  - Sandhaus RA
AD  - Division of Pulmonary, Critical Care and Sleep Medicine, National Jewish Health, 
      Denver, CO, USA.
FAU - Campos, Michael
AU  - Campos M
AD  - Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, University of 
      Miami School of Medicine, Miami, FL, USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20200212
PL  - New Zealand
TA  - Int J Chron Obstruct Pulmon Dis
JT  - International journal of chronic obstructive pulmonary disease
JID - 101273481
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - *Enzyme Replacement Therapy/adverse effects
MH  - Humans
MH  - Infusions, Intravenous
MH  - *Patient-Centered Care
MH  - Pulmonary Disease, Chronic Obstructive/diagnosis/epidemiology/*therapy
MH  - Pulmonary Emphysema/diagnosis/epidemiology/*therapy
MH  - Quality of Life
MH  - Treatment Outcome
MH  - alpha 1-Antitrypsin/*administration & dosage/adverse effects
MH  - alpha 1-Antitrypsin Deficiency/diagnosis/epidemiology/*therapy
PMC - PMC7024807
OTO - NOTNLM
OT  - Alpha-1 antitrypsin deficiency
OT  - alternative dosing
OT  - registries
OT  - self-administration
OT  - testing
COIS- Professor Joanna Chorostowska-Wynimko reports grants, personal fees, 
      non-financial support from Grifols, Boehringer Ingelheim, and CSL Behring, 
      personal fees, non-financial support from Novartis, and personal fees from GSK, 
      outside the submitted work. Dr Miriam Barrecheguren reports personal fees from 
      Grifols, Menarini, CSL Behring, GSK, Novartis, and Gebro Pharma, outside the 
      submitted work. Dr Ilaria Ferrarotti reports personal fees from Grifols and 
      grants from CSL Behring, outside the submitted work. Dr Timm Greulich reports 
      personal fees from AstraZeneca, Berlin-Chemie, Boehringer-Ingelheim, Chiesi, 
      CSL-Behring, Grifols, GSK, and Novartis, outside the submitted work. Professor 
      Robert A Sandhaus reports participation in advisory boards for Grifols, CSL 
      Behring, AstraZeneca, Mereo, and Inhibrx for which he receives reimbursement of 
      travel expenses. Dr Michael Campos reports grants, non-financial support, and 
      personal fees from CSL Behring, and grants and personal fees from Grifols, 
      outside the submitted work. The authors report no other conflicts of interest in 
      this work.
EDAT- 2020/02/28 06:00
MHDA- 2021/02/10 06:00
PMCR- 2020/02/12
CRDT- 2020/02/28 06:00
PHST- 2019/10/14 00:00 [received]
PHST- 2020/01/24 00:00 [accepted]
PHST- 2020/02/28 06:00 [entrez]
PHST- 2020/02/28 06:00 [pubmed]
PHST- 2021/02/10 06:00 [medline]
PHST- 2020/02/12 00:00 [pmc-release]
AID - 234646 [pii]
AID - 10.2147/COPD.S234646 [doi]
PST - epublish
SO  - Int J Chron Obstruct Pulmon Dis. 2020 Feb 12;15:345-355. doi: 
      10.2147/COPD.S234646. eCollection 2020.